Variant (rsID / SNP)

rs17227403

rs17227403 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FANCA. Location: chromosome 16, position 89,805,301. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

FANCAConflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 16:89805301
Cytoband: 16q24.3
HGVS: NM_000135.4(FANCA):c.4249C>G (p.His1417Asp)
Allele change: Silent

Associated conditions / phenotypes

Fanconi anemia|Fanconi anemia complementation group A

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.